Clin Osteol 2017; 22(4): 152-155

Epilepsy that was not epilepsy: A case report of two pediatric patients with pseudohypoparathyroidism in the Zlín RegionCase reports

P. Čamborová

This brief case report presents two pediatric patients from the Zlín Region in whom a spasm attack was the first symp­ tom and reason for examination. However, the assumed diagnosis of epilepsy proved to be wrong after additional tests were performed. In a girl, laboratory and genetic tests confirmed pseudohypoparathyroidism type 1b (PHP 1b). A boy met the diagnostic criteria for Albright's hereditary osteodystrophy (PHP 1a). This rare disease, with an estimated pre­ valence of 7 cases per 1 million population, was encountered in our center over a short period of time.

Keywords: pseudohypoparathyroidism (PHP), parathormone (PTH), GNAS, Albright's hereditary osteo­ dystrophy

Published: December 11, 2017  Show citation

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Čamborová P. Epilepsy that was not epilepsy: A case report of two pediatric patients with pseudohypoparathyroidism in the Zlín Region. Osteologický bulletin. 2017;22(4):152-155.
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